Item Group
Inclusion and exclusion criteria
C1512693 (UMLS CUI [1,1])
C0680251 (UMLS CUI [1,2])
Elig.phs000837.v1.p1.1
Item
Inclusion criteria: Probands diagnosed with 22q11.2 deletion syndrome and has 3 megabase deletion on chromosome 22q11.2 confirmed by fluorescence *in situ* hybridization. Both parents are available for DNA collection and are unaffected.
boolean
C1512693 (UMLS CUI [1,1])
C1997894 (UMLS CUI [1,2])
C4521766 (UMLS CUI [1,3])
C0752096 (UMLS CUI [1,4])
C0162789 (UMLS CUI [1,5])
C1512693 (UMLS CUI [2,1])
C0470187 (UMLS CUI [2,2])
C1706086 (UMLS CUI [2,3])
C0030551 (UMLS CUI [2,4])
C1561491 (UMLS CUI [2,5])
C2986417 (UMLS CUI [2,6])
Elig.phs000837.v1.p1.2
Item
Exclusion criteria: Probands with alternate or atypical 22q11.2 deletions. Parents unavailable for sequencing.
boolean
C0680251 (UMLS CUI [1,1])
C1997894 (UMLS CUI [1,2])
C0205182 (UMLS CUI [1,3])
C4521766 (UMLS CUI [1,4])
C0680251 (UMLS CUI [2,1])
C0686905 (UMLS CUI [2,2])
C0030551 (UMLS CUI [2,3])
C1561491 (UMLS CUI [2,4])